Incidental Mutation 'IGL01365:CK137956'
ID |
75901 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
CK137956
|
Ensembl Gene |
ENSMUSG00000028813 |
Gene Name |
cDNA sequence CK137956 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
IGL01365
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
127821385-127864744 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 127845135 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 203
(S203P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030614
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030614]
|
AlphaFold |
B1AYM9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030614
AA Change: S203P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000030614 Gene: ENSMUSG00000028813 AA Change: S203P
Domain | Start | End | E-Value | Type |
Pfam:DUF4688
|
197 |
596 |
3.8e-249 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abtb3 |
T |
C |
10: 85,469,680 (GRCm39) |
V867A |
possibly damaging |
Het |
Adgre5 |
G |
T |
8: 84,450,518 (GRCm39) |
|
probably null |
Het |
Agtr1a |
A |
G |
13: 30,565,811 (GRCm39) |
Y292C |
probably damaging |
Het |
Cnbd1 |
C |
T |
4: 18,860,576 (GRCm39) |
G390D |
probably damaging |
Het |
Cttnbp2nl |
T |
C |
3: 104,912,346 (GRCm39) |
T513A |
probably damaging |
Het |
Dppa2 |
A |
G |
16: 48,134,276 (GRCm39) |
K67R |
possibly damaging |
Het |
Kif3a |
A |
G |
11: 53,484,350 (GRCm39) |
K486E |
possibly damaging |
Het |
Lmnb2 |
G |
T |
10: 80,740,818 (GRCm39) |
Q151K |
probably benign |
Het |
Lmtk3 |
T |
A |
7: 45,440,331 (GRCm39) |
L223Q |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,937,449 (GRCm39) |
I901T |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,284,962 (GRCm39) |
Y3624C |
probably damaging |
Het |
Mios |
T |
A |
6: 8,216,089 (GRCm39) |
Y428* |
probably null |
Het |
Myb |
A |
G |
10: 21,028,401 (GRCm39) |
I154T |
probably benign |
Het |
Or14a256 |
T |
C |
7: 86,265,205 (GRCm39) |
Y216C |
probably damaging |
Het |
Parp9 |
C |
T |
16: 35,768,324 (GRCm39) |
T168I |
possibly damaging |
Het |
Pramel7 |
T |
C |
2: 87,321,757 (GRCm39) |
|
probably benign |
Het |
Ptar1 |
T |
A |
19: 23,683,165 (GRCm39) |
W140R |
probably damaging |
Het |
Sec14l2 |
G |
T |
11: 4,048,317 (GRCm39) |
D400E |
probably benign |
Het |
Setd3 |
A |
T |
12: 108,124,165 (GRCm39) |
Y175N |
probably damaging |
Het |
Slc5a8 |
C |
T |
10: 88,727,959 (GRCm39) |
|
probably benign |
Het |
Slc8a3 |
A |
G |
12: 81,362,150 (GRCm39) |
V223A |
probably damaging |
Het |
Srsf1 |
G |
T |
11: 87,940,007 (GRCm39) |
R173L |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,100,878 (GRCm39) |
|
probably null |
Het |
Tead2 |
T |
A |
7: 44,866,675 (GRCm39) |
D11E |
probably damaging |
Het |
Trappc12 |
T |
A |
12: 28,797,401 (GRCm39) |
I44F |
probably damaging |
Het |
Ttll9 |
T |
C |
2: 152,842,054 (GRCm39) |
Y303H |
possibly damaging |
Het |
Vmn1r28 |
T |
A |
6: 58,242,176 (GRCm39) |
N6K |
possibly damaging |
Het |
|
Other mutations in CK137956 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01123:CK137956
|
APN |
4 |
127,829,643 (GRCm39) |
missense |
probably benign |
|
IGL01563:CK137956
|
APN |
4 |
127,864,428 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01834:CK137956
|
APN |
4 |
127,840,442 (GRCm39) |
missense |
probably damaging |
1.00 |
R0117:CK137956
|
UTSW |
4 |
127,840,585 (GRCm39) |
missense |
possibly damaging |
0.63 |
R0456:CK137956
|
UTSW |
4 |
127,839,100 (GRCm39) |
missense |
probably damaging |
0.99 |
R0492:CK137956
|
UTSW |
4 |
127,845,093 (GRCm39) |
missense |
probably benign |
0.03 |
R1793:CK137956
|
UTSW |
4 |
127,845,242 (GRCm39) |
missense |
probably benign |
|
R1869:CK137956
|
UTSW |
4 |
127,864,327 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1932:CK137956
|
UTSW |
4 |
127,840,651 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2011:CK137956
|
UTSW |
4 |
127,844,829 (GRCm39) |
missense |
probably benign |
0.25 |
R2030:CK137956
|
UTSW |
4 |
127,845,180 (GRCm39) |
missense |
probably benign |
0.23 |
R2032:CK137956
|
UTSW |
4 |
127,839,069 (GRCm39) |
missense |
probably benign |
0.38 |
R2135:CK137956
|
UTSW |
4 |
127,845,433 (GRCm39) |
splice site |
probably benign |
|
R2994:CK137956
|
UTSW |
4 |
127,845,300 (GRCm39) |
missense |
probably benign |
0.03 |
R3608:CK137956
|
UTSW |
4 |
127,845,119 (GRCm39) |
missense |
probably damaging |
1.00 |
R3895:CK137956
|
UTSW |
4 |
127,840,441 (GRCm39) |
missense |
probably benign |
0.01 |
R4165:CK137956
|
UTSW |
4 |
127,864,522 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5610:CK137956
|
UTSW |
4 |
127,840,440 (GRCm39) |
critical splice donor site |
probably null |
|
R6861:CK137956
|
UTSW |
4 |
127,864,519 (GRCm39) |
missense |
probably damaging |
0.98 |
R7149:CK137956
|
UTSW |
4 |
127,864,626 (GRCm39) |
start codon destroyed |
probably null |
0.53 |
R8132:CK137956
|
UTSW |
4 |
127,845,075 (GRCm39) |
nonsense |
probably null |
|
R8688:CK137956
|
UTSW |
4 |
127,844,739 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
Posted On |
2013-10-07 |